Overview

Camurati-Engelmann disease is a genetic condition that mainly affects the bones. People with this disease have increased bone density, particularly affecting the long bones of the arms and legs. In some cases, the skull and hip bones are also affected. The thickened bones can lead to pain in the arms and legs, a waddling walk, muscle weakness, and extreme tiredness. The age at which affected individuals first experience symptoms varies greatly; however, most people with this condition develop pain or weakness by adolescence.[1]

Camurati-Engelmann disease is caused by a mutation in the TGFB1 gene which is inherited in an autosomal dominant fashion.[1][2] In some instances, people have the gene mutation that causes Camurati-Engelmann disease but never develop the characteristic features of this condition.[1] In others, features are present, but a mutation cannot be identified. These cases are referred to as Camurati-Engelmann disease type II.[2]

On this page

Basic Information

Genetics Home Reference (GHR) contains information on Camurati-Engelmann disease. This website is maintained by the National Library of Medicine.

The National Organization for Rare Disorders (NORD) is a federation of more than 130 nonprofit voluntary health organizations serving people with rare disorders. Click on the link to view information on this topic.

In Depth Information

Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine.

Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.

PubMed is a searchable database of medical literature and lists journal articles that discuss Camurati-Engelmann disease. Click on the link to view a sample search on this topic.